Volume 67; Issue 4

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Clinical Genetics
Volume 67; Issue 4

Clinical Genetics

Volume 67; Issue 4

1

Genetics of individual differences in bitter taste perception: lessons from the PTC gene

UK Kim, D Drayna

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 98 KB

english, 2005

2

Glyc-O-genetics of Walker–Warburg syndrome

J Van Reeuwijk, HG Brunner, H Van Bokhoven

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 933 KB

english, 2005

3

Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals – correlation with clinicopathological data

A Kataki, IP Gomatos, N Pararas, A Armakolas, D Panousopoulos, G Karantzikos, D Voros, G Zografos, C Markopoulos, E Leandros, MM Konstadoulakis

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 120 KB

english, 2005

4

A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients

AGW Hunter, M Cappelli, L Humphreys, JE Allanson, TT Chiu, C Peeters, D Moher, A Zimak

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

5

Novel mutations in the calpain 3 gene in Germany

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

6

Association of COL1A2, COL2A1 and COL9A1 and primary osteoarthritis in a founder population

TA Snelgrove, LJ Peddle, C Stone, F Noftall, D Peddle, D Squire, P Rockwood, R Martin, Y Tobin, N Gladney, P Rahman

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

7

Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin-X mutations

MC Zweers, WB Dean, TH Van Kuppevelt, J Bristow, J Schalkwijk

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.54 MB

english, 2005

8

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH

C Harvard, P Malenfant, M Koochek, S Creighton, ECR Mickelson, JJA Holden, MES Lewis, E Rajcan-Separovic

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.62 MB

english, 2005

9

A search for the gene(s) predisposing to idiopathic clubfoot

FR Dietz, WG Cole, LL Tosi, NC Carroll, RD Wemer, D Comstock, JC Murray

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 67 KB

english, 2005

10

Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity

MLE MacDonald, YP Goldberg, J MacFarlane, ME Samuels, MT Trese, BS Shastry

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 427 KB

english, 2005

11

LARALink: a web application for cytogenetic linkage analysis

B Fayz, JS Moldenhauer, D Wang, C Zhao, B Yao, D Liu, S Weinsheimer, L Gardner, A Johnson, DD Womble, SA Krawetz

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 417 KB

english, 2005

12

Myocilin gene implicated in primary congenital glaucoma

K Kaur, ABM Reddy, A Mukhopadhyay, AK Mandal, SE Hasnain, K Ray, R Thomas, D Balasubramanian, S Chakrabarti

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 250 KB

english, 2005

13

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

14

The ZIC gene family in development and disease

I Grinberg, KJ Millen

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 283 KB

english, 2005

15

Thrombosis in autoimmune disease: MBL2 genotyping identifies at-risk people

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

16

Inherited microdeletions that give rise to Beckwith–Wiedemann syndrome

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

17

Juvenile myoclonic epilepsy, calcium and the EF hand of death

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 197 KB

english, 2005

18

The I1307K APC mutation in a high-risk clinic setting: a follow-up study

M Regev, S-Eisenberg Barzilai, A Figer, J Zidan, HH Fidder, E Friedman

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005